Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0004798	HP:0004798	Recurrent infection of the gastrointestinal tract	0	AICDA CL E G H	57379	605258	Immunodeficiency with hyper IgM type 2	605258	C1720956	OMIM	1	248	13203	605257
HP:0004798	HP:0004798	Recurrent infection of the gastrointestinal tract	0	NBN CL E G H	4683	251260	Microcephaly, normal intelligence and immunodeficiency	251260	C0398791	OMIM	1	3250	7652	602667
HP:0004798	HP:0004798	Recurrent infection of the gastrointestinal tract	0	NFKBIA CL E G H	4792	612132	Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency, autosomal dominant	612132	C2677481	OMIM	1	262	7797	164008
HP:0004798	HP:0004798	Recurrent infection of the gastrointestinal tract	0	POLA1 CL E G H	5422	301220	Pigmentary disorder, reticulate, with systemic manifestations, X-linked	301220	C1845050	OMIM	1	633	9173	312040
HP:0004798	HP:0004798	Recurrent infection of the gastrointestinal tract	0	TNFRSF13B CL E G H	23495	609529	Immunoglobulin A deficiency 2	609529	C1836032	OMIM	1	404	18153	604907
HP:0004798	HP:0005215	Frequent Giardia lamblia infestation	1	AICDA CL E G H	57379	605258	Immunodeficiency with hyper IgM type 2	605258	C1720956	OMIM	1	248	13203	605257
HP:0004798	HP:0031123	Recurrent gastroenteritis	1	AICDA CL E G H	57379	605258	Immunodeficiency with hyper IgM type 2	605258	C1720956	OMIM	1	248	13203	605257
HP:0004798	HP:0005202	Helicobacter pylori infection	1	AICDA CL E G H	57379	605258	Immunodeficiency with hyper IgM type 2	605258	C1720956	OMIM	1	248	13203	605257
HP:0004798	HP:0005215	Frequent Giardia lamblia infestation	1	NBN CL E G H	4683	251260	Microcephaly, normal intelligence and immunodeficiency	251260	C0398791	OMIM	1	3250	7652	602667
HP:0004798	HP:0031123	Recurrent gastroenteritis	1	NBN CL E G H	4683	251260	Microcephaly, normal intelligence and immunodeficiency	251260	C0398791	OMIM	1	3250	7652	602667
HP:0004798	HP:0005202	Helicobacter pylori infection	1	NBN CL E G H	4683	251260	Microcephaly, normal intelligence and immunodeficiency	251260	C0398791	OMIM	1	3250	7652	602667
HP:0004798	HP:0005215	Frequent Giardia lamblia infestation	1	NFKBIA CL E G H	4792	612132	Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency, autosomal dominant	612132	C2677481	OMIM	1	262	7797	164008
HP:0004798	HP:0031123	Recurrent gastroenteritis	1	NFKBIA CL E G H	4792	612132	Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency, autosomal dominant	612132	C2677481	OMIM	1	262	7797	164008
HP:0004798	HP:0005202	Helicobacter pylori infection	1	NFKBIA CL E G H	4792	612132	Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency, autosomal dominant	612132	C2677481	OMIM	1	262	7797	164008
HP:0004798	HP:0005215	Frequent Giardia lamblia infestation	1	POLA1 CL E G H	5422	301220	Pigmentary disorder, reticulate, with systemic manifestations, X-linked	301220	C1845050	OMIM	1	633	9173	312040
HP:0004798	HP:0031123	Recurrent gastroenteritis	1	POLA1 CL E G H	5422	301220	Pigmentary disorder, reticulate, with systemic manifestations, X-linked	301220	C1845050	OMIM	1	633	9173	312040
HP:0004798	HP:0005202	Helicobacter pylori infection	1	POLA1 CL E G H	5422	301220	Pigmentary disorder, reticulate, with systemic manifestations, X-linked	301220	C1845050	OMIM	1	633	9173	312040
HP:0004798	HP:0005215	Frequent Giardia lamblia infestation	1	TNFRSF13B CL E G H	23495	609529	Immunoglobulin A deficiency 2	609529	C1836032	OMIM	1	404	18153	604907
HP:0004798	HP:0031123	Recurrent gastroenteritis	1	TNFRSF13B CL E G H	23495	609529	Immunoglobulin A deficiency 2	609529	C1836032	OMIM	1	404	18153	604907
HP:0004798	HP:0005202	Helicobacter pylori infection	1	TNFRSF13B CL E G H	23495	609529	Immunoglobulin A deficiency 2	609529	C1836032	OMIM	1	404	18153	604907
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0004798	HP:0004798	Recurrent infection of the gastrointestinal tract	0	COG4 CL E G H	25839	263501				ORPHA	0	339	18620	606976
HP:0004798	HP:0004798	Recurrent infection of the gastrointestinal tract	0	COG4 CL E G H	25839	613489	Congenital disorder of glycosylation type 2J	613489	C3150736	OMIM	0	339	18620	606976
HP:0004798	HP:0005215	Frequent Giardia lamblia infestation	1	COG4 CL E G H	25839	263501				ORPHA	0	339	18620	606976
HP:0004798	HP:0031123	Recurrent gastroenteritis	1	COG4 CL E G H	25839	263501				ORPHA	0	339	18620	606976
HP:0004798	HP:0005202	Helicobacter pylori infection	1	COG4 CL E G H	25839	263501				ORPHA	0	339	18620	606976
HP:0004798	HP:0005215	Frequent Giardia lamblia infestation	1	COG4 CL E G H	25839	613489	Congenital disorder of glycosylation type 2J	613489	C3150736	OMIM	0	339	18620	606976
HP:0004798	HP:0031123	Recurrent gastroenteritis	1	COG4 CL E G H	25839	613489	Congenital disorder of glycosylation type 2J	613489	C3150736	OMIM	0	339	18620	606976
HP:0004798	HP:0005202	Helicobacter pylori infection	1	COG4 CL E G H	25839	613489	Congenital disorder of glycosylation type 2J	613489	C3150736	OMIM	0	339	18620	606976